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Study Finds Genetic Mutation Responsible for ‘Port Wine’ Birthmarks

Update Date: May 09, 2013 02:55 PM EDT

Although some birthmarks can be considered adorable for its shape, port wine birthmarks, on the other hand, tend to generate stares that most people do not want. Port wine birthmarks are markings that range from a red to purple color and are often located on the face or neck regions. These birthmarks are physically harmless, but due to their large markings, people, particularly children, could often suffer from verbal abuse, hurting their overall mental health. Fortunately, researchers reported that they might have found the genetic mutation that leads to wine port birthmarks, which worsen over time, and from this discovery, they could possibly find a way to stop the mutation from occurring.

Wine port birthmarks affects nearly one in 300 children within the United Kingdom. This condition is believed to be the result of poor blood vessel development due to the mutation. The American research team from the Kennedy Krieger Institute in Baltimore, MD, wanted to study the mutation of these birthmarks as well as the disease that has been linked to this condition, sturge-weber syndrome (SWS). SWS is a rare condition that affects the eyes and the brain, and afflicts nearly one million people within the United States. The researchers initially took the samples of three people with SWS and compared them to the healthy skin samples of other people. The researchers found one genetic mutation that could be responsible for SWS and wine port birthmarks.

In a larger study, this same genetic mutation was found in 23 out of 26 participants with SWS and 12 out of 13 participants with wine port birthmarks. The discovery of the genetic mutation suggests that this mutation occurred post-conception and is not an inherited condition.

"Now that we know the underlying genetic mutation responsible for both conditions, we're hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time," Dr. Anne Comi, lead author and director of the Kennedy Krieger Institute's Hunter Nelson Sturge-Weber Center. The researchers hope that they could create drugs that would stop the mutation from occurring and prevent SWS and wine port birthmarks.

The study was published in the New England Journal of Medicine.

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